A new case of Pfeiffer syndrome with mutation in FGFR2.
We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
Addor
M C
MC
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Gudinchet
F
F
Laurini
R N
RN
Pescia
G
G
Schorderet
D F
DF
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D003398:Craniosynostoses / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics; D017809:Fatal Outcome; D016222:Fibroblast Growth Factor 2 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D011859:Radiography
D016222:Fibroblast Growth Factor 2